Version 5.4
Homo sapiens Gene: CRYM
Summary
InnateDB Gene IDBG-19134.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CRYM
Gene Name crystallin, mu
Synonyms DFNA40; THBP
Species Homo sapiens
Ensembl Gene ENSG00000103316
Encoded Proteins
IDBP-19136
crystallin, mu
IDBP-593162
crystallin, mu
IDBP-752209
IDBP-744981
IDBP-753980
IDBP-752351
IDBP-749781
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:21238874-21303083
Strand Reverse strand
Band p12.2
Transcripts
ENST00000219599 ENSP00000219599
ENST00000543948 ENSP00000440227
ENST00000576703 ENSP00000460126
ENST00000572914 ENSP00000461904
ENST00000572113
ENST00000571666
ENST00000574787
ENST00000574448 ENSP00000459982
ENST00000570401 ENSP00000460820
ENST00000571358 ENSP00000460510
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003714 transcription corepressor activity
GO:0004616 phosphogluconate dehydrogenase (decarboxylating) activity
GO:0042562 hormone binding
GO:0042803 protein homodimerization activity
GO:0047127 thiomorpholine-carboxylate dehydrogenase activity
GO:0050661 NADP binding
GO:0070324 thyroid hormone binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006098 pentose-phosphate shunt
GO:0007605 sensory perception of sound
GO:0042403 thyroid hormone metabolic process
GO:0055114 oxidation-reduction process
GO:0070327 thyroid hormone transport
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030905
View Gene Order
ENSBTAG00000009842
Not yet available
Cross-References
SwissProt Q14894
TrEMBL H9KVC2 I3L325 I3L3J9 I3NI53
UniProt Splice Variant
Entrez Gene 1428
UniGene Hs.924
RefSeq NM_001014444 NM_001888
HUGO HGNC:2418
OMIM 123740
CCDS CCDS10597
HPRD 08831
IMGT
EMBL AF001550 AF039392 AF039393 AF039394 AF039395 AF039396 AF039397 AK290852 BC018061 BX648477 CH471228 L02950 U85772
GenPept AAB67600 AAB81564 AAB94938 AAC16914 AAH18061 BAF83541 CAI46030 EAW66863
RNA Seq Atlas 1428

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca